C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: huntingtin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000197386 HTT 9606 + 4:3074681-3243959 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000355072 HTT-001 3074681-3243959 protein_coding
  ENST00000502820 HTT-004 3203006-3206579 processed_transcript
  ENST00000506137 HTT-006 3115329-3121712 retained_intron
  ENST00000508321 HTT-003 3235424-3236179 retained_intron
  ENST00000509043 HTT-012 3178347-3180794 retained_intron
  ENST00000509618 HTT-011 3160362-3173227 protein_coding
  ENST00000509751 HTT-009 3211912-3213055 retained_intron
  ENST00000510626 HTT-002 3128339-3243940 retained_intron
  ENST00000512068 HTT-010 3228645-3229922 retained_intron
  ENST00000512909 HTT-013 3121400-3123466 retained_intron
  ENST00000513326 HTT-005 3178347-3180787 retained_intron
  ENST00000513639 HTT-008 3178347-3180673 retained_intron
  ENST00000513806 HTT-007 3228713-3235396 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000355072ENST00000510626
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000355072 3.524±0.00 3.009±0.00 0.566±0.00 4.299±2.95 2.098±0.94 2.307±1.27 3.112±0.00 2.226±0.72 1.137±0.37 2.819±0.00 6.693±4.69 2.612±1.53 2.498±0.54 5.544±0.20
ENST00000510626 N/A N/A 0.518±0.00 N/A N/A N/A N/A N/A N/A 1.459±0.00 N/A 0.542±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000748 CIL_000748_0001 CGP 4:2963608-3243959
CIL_000747 CIL_000747_0001 CGP 4:3074681-3271738

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000050 IEA urea cycle
GO:0000052 IEA citrulline metabolic process
GO:0000132 IMP establishment of mitotic spindle orientation
GO:0002039 IPI p53 binding
GO:0005488 IEA binding
GO:0005515 IPI:IEA protein binding
GO:0005634 IDA nucleus
GO:0005737 IDA cytoplasm
GO:0005739 IEA mitochondrion
GO:0005770 IDA late endosome
GO:0005776 IDA autophagic vacuole
GO:0005783 IDA endoplasmic reticulum
GO:0005794 IDA Golgi apparatus
GO:0005829 IDA cytosol
GO:0006606 IEA protein import into nucleus
GO:0006839 IEA mitochondrial transport
GO:0006888 IEA ER to Golgi vesicle-mediated transport
GO:0006890 IMP retrograde vesicle-mediated transport, Golgi to ER
GO:0006915 IEA apoptotic process
GO:0007005 IEA mitochondrion organization
GO:0007029 IEA endoplasmic reticulum organization
GO:0007030 IMP Golgi organization
GO:0007212 IEA dopamine receptor signaling pathway
GO:0007283 IEA spermatogenesis
GO:0007369 IEA gastrulation
GO:0007417 IEA central nervous system development
GO:0007420 IEA brain development
GO:0007569 IEA cell aging
GO:0007611 IEA learning or memory
GO:0007612 IEA learning
GO:0007625 IEA grooming behavior
GO:0007626 IEA locomotory behavior
GO:0008088 IEA axon cargo transport
GO:0008134 IBA transcription factor binding
GO:0008306 IEA associative learning
GO:0008340 IEA determination of adult lifespan
GO:0008542 IEA visual learning
GO:0009653 IEA anatomical structure morphogenesis
GO:0009952 IEA anterior/posterior pattern specification
GO:0016023 IEA cytoplasmic membrane-bounded vesicle
GO:0016197 IEA endosomal transport
GO:0016234 IEA inclusion body
GO:0019244 IEA lactate biosynthetic process from pyruvate
GO:0019805 IEA quinolinate biosynthetic process
GO:0021756 IEA striatum development
GO:0021988 IEA olfactory lobe development
GO:0021990 IEA neural plate formation
GO:0022008 IEA neurogenesis
GO:0030072 IEA peptide hormone secretion
GO:0030073 IEA insulin secretion
GO:0030424 IDA axon
GO:0030425 IDA dendrite
GO:0030659 IDA cytoplasmic vesicle membrane
GO:0031587 IDA positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0034047 IMP regulation of protein phosphatase type 2A activity
GO:0034452 IPI dynactin binding
GO:0035176 IEA social behavior
GO:0042445 IEA hormone metabolic process
GO:0042802 IPI identical protein binding
GO:0043066 IEA negative regulation of apoptotic process
GO:0043234 IDA protein complex
GO:0043524 IEA negative regulation of neuron apoptotic process
GO:0044325 IDA ion channel binding
GO:0045505 IDA dynein intermediate chain binding
GO:0046902 IEA regulation of mitochondrial membrane permeability
GO:0047496 IMP vesicle transport along microtubule
GO:0048167 IEA regulation of synaptic plasticity
GO:0048341 IEA paraxial mesoderm formation
GO:0048487 IDA beta-tubulin binding
GO:0048513 IBA organ development
GO:0048666 IEA neuron development
GO:0050809 IEA diazepam binding
GO:0051402 IEA neuron apoptotic process
GO:0051592 IEA response to calcium ion
GO:0051881 IEA regulation of mitochondrial membrane potential
GO:0051938 IEA L-glutamate import
GO:0055072 IEA iron ion homeostasis
GO:1901215 IEA negative regulation of neuron death
GO:2001237 IMP negative regulation of extrinsic apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000052866 htt huntingtin protein_coding Danio_rerio
ENSMUSG00000029104 Htt huntingtin protein_coding Mus_musculus

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